Canonical Allele Identifier: CA056248

Gene: FBN1

Linked Data

• dbSNP Id: rs556131403
• ExAC: 15:48733971 T / G
• gnomAD v2: 15-48733971-T-G
• gnomAD v4: 15-48441774-T-G
• MyVariant Identifiers: chr15:g.48733971T>G (hg19) ; chr15:g.48441774T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.48441774T>G , CM000677.2:g.48441774T>G	GRCh38
NC_000015.9:g.48733971T>G , CM000677.1:g.48733971T>G	GRCh37
NC_000015.8:g.46521263T>G	NCBI36
NG_008805.2:g.209015A>C , LRG_778:g.209015A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000559133.6:c.6110A>C	ENSP00000453958.2:p.Lys2037Thr
ENST00000674301.2:c.6110A>C	ENSP00000501333.2:p.Lys2037Thr
ENST00000316623.10:c.6110A>C MANE Select	ENSP00000325527.5:p.Lys2037Thr
ENST00000674301.1:c.1109A>C	ENSP00000501333.1:p.Lys370Thr
ENST00000316623.9:c.6110A>C	ENSP00000325527.5:p.Lys2037Thr
ENST00000537463.6:c.*1873A>C	ENSP00000440294.2:n.*1873A>C
ENST00000559133.5:c.1417A>C
ENST00000560820.1:n.230A>C
NM_000138.4:c.6110A>C , LRG_778t1:c.6110A>C	NP_000129.3:p.Lys2037Thr
NM_000138.5:c.6110A>C MANE Select	NP_000129.3:p.Lys2037Thr